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Urine Screening for Metabolic Disorders

Froggy Jumps

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Metabolic urine screening quiz

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Philippines

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Urine Screening for Metabolic Disorders
 

Froggy Jumps

Urine Screening for Metabolic DisordersVersion en ligne

Metabolic urine screening quiz

par Oj Garcia
1

PKU is caused by a deficiency of which enzyme leading to high phenylalanine levels?

2

What is a classic newborn screening test for PKU known as?

3

Which test uses Bacillus subtilis to detect phenylalanine in blood for PKU?

4

Urine phenylpyruvic acid is detected using which reagent?

5

Tyrosyluria results from defects in tyrosine metabolism. Which condition is it associated with?

6

Which type of tyrosinemia produces renal tubular disorder and early renal failure?

7

Which test is used to screen for tyrosinemia?

8

Melanuria can indicate which serious condition if seen in urine after air exposure?

9

Which screening tests detect porphyrinuria?

10

Alkaptonuria is due to deficiency of which enzyme?

11

What color change does the ferric chloride test produce in alkaptonuria screening?

12

Maple Syrup Disease (MSUD) involves which three amino acids?

13

MSUD screening uses which reagent to detect keto acids in urine?

14

Which odor is characteristic of MSUD urine?

15

Isovaleric acidemia in organic acidemias is noted for what urine odor?

16

Isovaleric acidemia results from deficiency in which enzyme?

17

Which urine test can show emerald green with methylmalonic acid?

18

Which disorder causes blue diaper syndrome due to indicanuria?

19

5-Hydroxyindolacetic acid (5-HIAA) elevation indicates which condition?

20

What reduces urine to detect homocystinuria?

21

Screening for homocystinuria may require a confirmatory silver nitroprusside test to detect what?

22

Cystinuria is characterized by high levels of which amino acid in urine?

23

Which chemical test detects cystine in urine?

24

Cystinosis primarily affects which organ system showcase?

25

Which disorder involves progressive renal failure in infancy due to cystine buildup?

26

Which amino acid disorder can cause mental retardation if untreated and is autosomal recessive?

27

Hartnup disease is associated with what urinary finding?

28

Which screening test is used for lead poisoning detection via erythrocyte protoporphyrin?

29

Which disorder is linked to blue-staining diaper and indicanuria?

30

Porphyrin disorders involve which major biological molecule?

31

Which two screening tests help detect porphyrinuria?

32

Which condition is the historical example described by Garrod in 1902?

33

Which test erects a blue color for alkaptonuria screening besides ferric chloride?

34

What is the common name for elevated phenylalanine in PKU that leads to diet restriction?

35

Which disorder is defined by failure to hydroxylate phenylalanine to tyrosine?

36

Which test confirms positive PKU screening beyond initial tests?

37

Which urine test color indicates a positive phenylpyruvic acid test?

38

Which disorder shows a blue-black ferric chloride result in urine screening?

39

Which disorder is classic for a maple syrup odor in urine?

40

Which amino acids are affected in MSUD, and what inheritance pattern?

41

Which disorder presents with a blue diaper sign and can be Tx with diet change?

42

Which test is used to screen for methylmalonic acid in organic acidemias?

43

Which disorder is known for kidney stones and positive cyanide nitroprusside test?

44

Which disorder involves ocular and skeletal manifestations due to methionine metabolism defect?

45

Which screening method uses a urine sample to detect tyrosine crystals in cells?

46

Which condition can lead to darkened urine upon standing due to oxidation?

47

Which disorder features a positive Benedict’s test for urine?

48

Which disorder is characterized by lack of enzyme FAH in tyrosinemia types?

49

Which test uses ferric chloride to show a blue-green color for PKU confirmation?

50

Which disorder is linked to a mousy odor in newborn urine?

51

Which disorder’s screening is typically done after 24 hours of life in newborns?

52

Which condition causes urine darkening when alkaline, known historically?

53

Which amino acid disorder can be detected by a sweaty feet odor in urine?

54

Which test detects ALA and porphobilinogen via Ehrlich reaction?

55

Which metabolite is a screening marker for lead poisoning?

56

Which disorder is associated with a blue diaper syndrome and indicanuria?

57

Which test demonstrates a red color in sodium nitroprusside method for homocystinuria?

58

Which condition is screened by detecting homogentisic acid buildup in tissues?

59

Which disorder shows a urine color change to blue with ferric chloride in screening?

60

Which disorder is a classic example of an autosomal recessive branched-chain amino acid disorder?

61

Which disorder features a brown pigment deposition and potential arthritis?

62

What is the main screening test for porphyrin disorders that fluoresces under UV?

63

Which condition is linked to elevated urinary cystine crystals?

64

Which test confirms cystinuria by reducing cystine and adding nitroprusside?

65

Which disorder is sensitive to blood diurnal secretion and can cause corneal lesions?

66

Which condition is the historical name for urine darkening upon standing due to oxidation?

67

Which disorder is tested with ferric chloride and Benedict’s test in screenings?

68

Which amino acids are implicated in tyrosinemia Type 1 pathway blockage?

69

Which disorder is associated with a positive bead on Bacillus subtilis culture?

70

Which screening test for PKU yields blue-green color with urine?

71

Which condition can cause dark urine after air exposure due to pigment isolation?

72

Which disorder involves a defect in the enzyme tyrosine aminotransferase?

73

Which disorder is characterized by a ‘blue diaper’ diaper syndrome finding?

74

Which screening method is used to detect methylmalonic acid in urine?

75

Which condition is linked to a positive cyanide nitroprusside test?

76

Which disorder’s odor can be used as a diagnostic clue in newborns?

77

Which test is used to confirm abnormal phenylalanine levels in PKU?

78

Which disorder involves a defect in homogentisic acid metabolism?

79

Which disorder is associated with corneal erosions due to tyrosine accumulation?

80

Which disorder shows a red color with Ehrlich reaction for ALA/porphobilinogen?

81

Indicanuria is a feature of which disorder?

82

Which disorder involves crystals in urine due to tyrosine crystals?

83

Which test is used for screening lead exposure in blood?

84

What is a key feature of Hartnup disease in urine analysis?

85

Which disorder is described as an inherited porphyria with red urine after air exposure?

86

Which amino acid disorder is screened by checking for maple syrup odor?

87

Which metabolic disorder is associated with the term ‘alkali lover’?

88

Which test helps confirm porphyrinuria by UV fluorescence in 550-600 nm?

89

Which disorder can cause methionine accumulation leading to thromboembolic events?

90

Which condition is linked to a blue diaper sign and metabolic screening?

91

Which disorder’s screening involves a blue-green color with ferric chloride in urine?

92

Which test is used to detect urinary 5-HIAA in suspected carcinoid tumors?

93

Which disorder is a classic example of an autosomal recessive amino acid disorder with a maple odor?

94

Which disorder can present with renal failure and cystine crystals in urine?

95

Which screening test detects homogentisic acid accumulation in blood/tissues?

96

Which disorder is characterized by urinary tyrosine crystals and is inherited?

97

Which screening method uses a blue-green color in urine with ferric chloride for PKU?

98

Which malady is described as a mousy odor in newborn PKU?

99

Which disorder has a well-known syndrome where urine darkens on standing due to alkaline pH?

100

Which test confirms tyrosinemia by detecting tyrosine crystals in urine?

101

Which disorder is described as a rare branched-chain amino acid disorder with autosomal recessive inheritance?

102

Which test is used to detect indicanuria in urine?

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